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The Journal of Clinical Endocrinology and Metabolism
|
January 8, 2009
Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis
Scott M Blackman, Stephanie Hsu, Lori L Vanscoy, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
May 7, 2011
Evaluation of the disease liability of CFTR variants
Patrick R Sosnay, Carlo Castellani, Mary Corey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 19, 2008
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders
Samuel M Moskowitz, James F Chmiel, Darci L Sternen, et al.
The Journal of Investigative Dermatology
|
February 20, 2009
Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis
Kathryn E McDougal, M Daniele Fallin, David R Moller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 30, 2015
Bias in CFTR screening panels
Patrick R Sosnay, Carlo Castellani, Christopher M Penland, et al.
Human Molecular Genetics
|
October 7, 2005
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome
Molly B Sheridan, Peying Fong, Joshua D Groman, et al.
Molecular & Cellular Proteomics : MCP
|
April 14, 2019
Integrated Transcriptomic and Proteomic Analysis of Human Eccrine Sweat Glands Identifies Missing and Novel Proteins
Chan Hyun Na, Neeraj Sharma, Anil K Madugundu, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
November 11, 2010
The hypertonic environment differentially regulates wild-type CFTR and TNR-CFTR chloride channels
Roberta M Lassance-Soares, Jie Cheng, Kristina Krasnov, et al.
JCI Insight
|
November 14, 2024
Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B
Dong Li, Suzanne Jan de Beur, Cuiping Hou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 15, 2020
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Joshua L Deignan, Caroline Astbury, Garry R Cutting, et al.
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of 16
Search research articles
Search
Showing results (51-60 of 157) with videos related to
Sort By:
Page
of 16
The Journal of Clinical Endocrinology and Metabolism
|
January 8, 2009
Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis
Scott M Blackman, Stephanie Hsu, Lori L Vanscoy, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
May 7, 2011
Evaluation of the disease liability of CFTR variants
Patrick R Sosnay, Carlo Castellani, Mary Corey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 19, 2008
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders
Samuel M Moskowitz, James F Chmiel, Darci L Sternen, et al.
The Journal of Investigative Dermatology
|
February 20, 2009
Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis
Kathryn E McDougal, M Daniele Fallin, David R Moller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 30, 2015
Bias in CFTR screening panels
Patrick R Sosnay, Carlo Castellani, Christopher M Penland, et al.
Human Molecular Genetics
|
October 7, 2005
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome
Molly B Sheridan, Peying Fong, Joshua D Groman, et al.
Molecular & Cellular Proteomics : MCP
|
April 14, 2019
Integrated Transcriptomic and Proteomic Analysis of Human Eccrine Sweat Glands Identifies Missing and Novel Proteins
Chan Hyun Na, Neeraj Sharma, Anil K Madugundu, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|
November 11, 2010
The hypertonic environment differentially regulates wild-type CFTR and TNR-CFTR chloride channels
Roberta M Lassance-Soares, Jie Cheng, Kristina Krasnov, et al.
JCI Insight
|
November 14, 2024
Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B
Dong Li, Suzanne Jan de Beur, Cuiping Hou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 15, 2020
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Joshua L Deignan, Caroline Astbury, Garry R Cutting, et al.
Page
of 16